Varadi syndrome is an autosomal recessive disorder caused by mutations of the CPLANE1 gene. It is characterized by cerebellar and metacarpal (central polydactyly) abnormalities.
Orofaciodigital syndrome | ||||
Orofaciodigital syndrome 01 | ||||
Orofaciodigital syndrome 04 | ||||
Orofaciodigital syndrome 06 | ||||
CPLANE1 | ||||
Orofaciodigital syndrome 16 | ||||
Orofaciodigital syndrome 9 | ||||
1. |
Darmency-Stamboul V et al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. |
2. |
Panigrahi I et al. (2013) Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. |
3. |
Doss BJ et al. (1998) Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). |
4. |
None (1993) Oral-facial-digital syndromes, 1992. |
5. |
Cleper R et al. (1993) Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. |
6. |
Stephan MJ et al. (1994) Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). |
7. |
Shashi V et al. (1995) Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS? |
8. |
Váradi V et al. (1980) Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. |
9. |
Egger J et al. (1982) Joubert-Boltshauser syndrome with polydactyly in siblings. |
10. |
Mattei JF et al. (1983) Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? |
11. |
Gencík A et al. (1983) Mohr syndrome in two siblings. |
12. |
Silengo MC et al. (1987) Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. |
13. |
Münke M et al. (1990) Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. |
14. |
Hingorani SR et al. (1991) Twin fetuses with abnormalities that overlap with three midline malformation complexes. |
15. |
Muenke M et al. (1991) On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. |
16. |
Haumont D et al. (1983) The Mohr syndrome: are there two variants? |
17. |
Gustavson KH et al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). |
18. |
Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. |
19. |
Lopez E et al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI. |
20. |
Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. |
21. |
Orphanet article Orphanet ID 2754 |
22. |
OMIM.ORG article Omim 277170 |